Canonical Allele Identifier: CA379801181

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428184A>T (hg19) ; chr11:g.17406637A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406637A>T , CM000673.2:g.17406637A>T	GRCh38
NC_000011.9:g.17428184A>T , CM000673.1:g.17428184A>T	GRCh37
NC_000011.8:g.17384760A>T	NCBI36
NG_008867.1:g.75266T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2883T>A
ENST00000529967.6:n.1653T>A
ENST00000532220.2:n.1046T>A
ENST00000642611.2:n.3383T>A
ENST00000645004.2:n.813T>A
ENST00000682051.1:n.3330T>A
ENST00000682110.1:n.3383T>A
ENST00000682140.1:c.3311T>A	ENSP00000507829.1:p.Ile1104Asn
ENST00000682185.1:n.4619T>A
ENST00000682204.1:c.*1452T>A	ENSP00000507094.1:n.*1452T>A
ENST00000682215.1:n.3380T>A
ENST00000682288.1:c.*1745T>A	ENSP00000507506.1:n.*1745T>A
ENST00000682442.1:n.3603T>A
ENST00000682528.1:n.3460T>A
ENST00000682673.1:n.3327T>A
ENST00000682805.1:n.3380T>A
ENST00000682965.1:c.3311T>A	ENSP00000508229.1:p.Ile1104Asn
ENST00000683093.1:n.3482T>A
ENST00000683136.1:c.3311T>A	ENSP00000507768.1:p.Ile1104Asn
ENST00000683153.1:n.3539T>A
ENST00000683365.1:n.3485T>A
ENST00000683377.1:n.3383T>A
ENST00000683456.1:c.*451T>A	ENSP00000508318.1:n.*451T>A
ENST00000683522.1:n.3383T>A
ENST00000683562.1:c.*1483T>A	ENSP00000508265.1:n.*1483T>A
ENST00000683693.1:n.3460T>A
ENST00000683725.1:c.3314T>A	ENSP00000507496.1:p.Ile1105Asn
ENST00000684010.1:n.3378T>A
ENST00000684157.1:n.3383T>A
ENST00000684253.1:n.3286T>A
ENST00000684288.1:c.*1486T>A	ENSP00000507143.1:n.*1486T>A
ENST00000684313.1:n.2815T>A
ENST00000684332.1:n.3456T>A
ENST00000684371.1:n.3489T>A
ENST00000684404.1:n.3426T>A
ENST00000684442.1:n.3383T>A
ENST00000684555.1:c.*1526T>A	ENSP00000507705.1:n.*1526T>A
ENST00000684571.1:c.3155T>A	ENSP00000506935.1:p.Ile1052Asn
ENST00000684593.1:c.*3019T>A	ENSP00000507005.1:n.*3019T>A
ENST00000684711.1:c.*1710T>A	ENSP00000506841.1:n.*1710T>A
ENST00000302539.9:c.3317T>A	ENSP00000303960.4:p.Ile1106Asn
ENST00000389817.8:c.3314T>A MANE Select	ENSP00000374467.4:p.Ile1105Asn
ENST00000642271.1:c.3311T>A	ENSP00000493749.1:p.Ile1104Asn
ENST00000642579.1:c.1398T>A
ENST00000642611.1:n.3268T>A
ENST00000642902.1:c.3096T>A
ENST00000643260.1:c.3314T>A	ENSP00000494450.1:p.Ile1105Asn
ENST00000643562.1:c.*1290T>A	ENSP00000496124.1:n.*1290T>A
ENST00000643925.1:c.1438T>A
ENST00000644447.1:c.1670T>A	ENSP00000496282.1:p.Ile557Asn
ENST00000644484.1:c.*1569T>A	ENSP00000493558.1:n.*1569T>A
ENST00000644542.1:c.*3118T>A	ENSP00000495532.1:n.*3118T>A
ENST00000644675.1:c.*1486T>A	ENSP00000494567.1:n.*1486T>A
ENST00000644757.1:c.*1599T>A	ENSP00000495085.1:n.*1599T>A
ENST00000644772.1:c.3380T>A	ENSP00000494321.1:p.Ile1127Asn
ENST00000645004.1:n.453T>A
ENST00000645076.1:c.2513T>A
ENST00000645417.1:c.480T>A
ENST00000645744.1:c.*1578T>A	ENSP00000494564.1:n.*1578T>A
ENST00000645760.1:c.3589T>A
ENST00000645884.1:c.*451T>A	ENSP00000495516.1:n.*451T>A
ENST00000646003.1:c.*1270T>A	ENSP00000495259.1:n.*1270T>A
ENST00000646207.1:c.*1781T>A	ENSP00000495025.1:n.*1781T>A
ENST00000646276.1:c.*1587T>A	ENSP00000496070.1:n.*1587T>A
ENST00000646592.1:c.2620T>A
ENST00000646902.1:c.3311T>A	ENSP00000494101.1:p.Ile1104Asn
ENST00000646993.1:c.*1710T>A	ENSP00000493720.1:n.*1710T>A
ENST00000647013.1:c.3320T>A	ENSP00000496741.1:n.3320T>A
ENST00000647015.1:c.3065T>A	ENSP00000495389.1:p.Ile1022Asn
ENST00000647086.1:c.*3044T>A	ENSP00000493677.1:n.*3044T>A
ENST00000647158.1:c.*1455T>A	ENSP00000495744.1:n.*1455T>A
ENST00000302539.8:c.3317T>A	ENSP00000303960.4:p.Ile1106Asn
ENST00000389817.7:c.3314T>A	ENSP00000374467.3:p.Ile1105Asn
ENST00000524561.1:n.446T>A
ENST00000527905.5:c.*190T>A	ENSP00000431653.1:n.*190T>A
NM_000352.4:c.3314T>A	NP_000343.2:p.Ile1105Asn
NM_001287174.1:c.3317T>A	NP_001274103.1:p.Ile1106Asn
XM_011520331.1:c.3314T>A	XP_011518633.1:p.Ile1105Asn
XM_011520332.1:c.3317T>A	XP_011518634.1:p.Ile1106Asn
XM_011520333.1:c.1814T>A	XP_011518635.1:p.Ile605Asn
XR_930890.1:n.3380T>A
XR_930891.1:n.3380T>A
XR_930892.1:n.3280T>A
XR_930893.1:n.3277T>A
NM_001351295.1:c.3380T>A	NP_001338224.1:p.Ile1127Asn
NM_001351296.1:c.3314T>A	NP_001338225.1:p.Ile1105Asn
NM_001351297.1:c.3311T>A	NP_001338226.1:p.Ile1104Asn
NR_147094.1:n.3463T>A
XM_017018197.2:c.3383T>A	XP_016873686.1:p.Ile1128Asn
XM_017018199.1:c.3380T>A	XP_016873688.1:p.Ile1127Asn
XM_017018201.2:c.3383T>A	XP_016873690.1:p.Ile1128Asn
XM_017018202.1:c.1880T>A	XP_016873691.1:p.Ile627Asn
XM_017018204.1:c.1271T>A	XP_016873693.1:p.Ile424Asn
XM_024448668.1:c.1682T>A	XP_024304436.1:p.Ile561Asn
XR_001747945.2:n.3455T>A
XR_001747946.2:n.3386T>A
XR_002957189.1:n.3535T>A
NM_000352.6:c.3314T>A MANE Select	NP_000343.2:p.Ile1105Asn
NM_001287174.2:c.3317T>A	NP_001274103.1:p.Ile1106Asn
NM_001351295.2:c.3380T>A	NP_001338224.1:p.Ile1127Asn
NM_001351296.2:c.3314T>A	NP_001338225.1:p.Ile1105Asn
NM_001351297.2:c.3311T>A	NP_001338226.1:p.Ile1104Asn
NR_147094.2:n.3463T>A
NM_001287174.3:c.3317T>A	NP_001274103.1:p.Ile1106Asn